Canonical Allele Identifier: CA1707696

Gene: DYSF

Linked Data

• ClinVar Variation Id: 834151
• ClinVar RCV Id: RCV001034779
• dbSNP Id: rs760938026
• ExAC: 2:71913594 C / T
• gnomAD v2: 2-71913594-C-T
• gnomAD v4: 2-71686464-C-T
• MyVariant Identifiers: chr2:g.71913594C>T (hg19) ; chr2:g.71686464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71686464C>T , CM000664.2:g.71686464C>T	GRCh38
NC_000002.11:g.71913594C>T , CM000664.1:g.71913594C>T	GRCh37
NC_000002.10:g.71767102C>T	NCBI36
NG_008694.1:g.237842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3746C>T	ENSP00000513536.1:p.Ala1249Val
ENST00000698058.1:c.2963C>T	ENSP00000513537.1:p.Ala988Val
ENST00000698059.1:c.3071C>T	ENSP00000513538.1:p.Ala1024Val
ENST00000258104.8:c.6215C>T MANE Plus Clinical	ENSP00000258104.3:p.Ala2072Val
ENST00000410020.8:c.6332C>T MANE Select	ENSP00000386881.3:p.Ala2111Val
ENST00000258104.7:c.6215C>T	ENSP00000258104.3:p.Ala2072Val
ENST00000394120.6:c.6218C>T	ENSP00000377678.2:p.Ala2073Val
ENST00000409366.5:c.6281C>T	ENSP00000386512.1:p.Ala2094Val
ENST00000409582.7:c.6329C>T	ENSP00000386547.3:p.Ala2110Val
ENST00000409651.5:c.6311C>T	ENSP00000386683.1:p.Ala2104Val
ENST00000409744.5:c.6239C>T	ENSP00000386285.1:p.Ala2080Val
ENST00000409762.5:c.6266C>T	ENSP00000387137.1:p.Ala2089Val
ENST00000410020.7:c.6332C>T	ENSP00000386881.3:p.Ala2111Val
ENST00000410041.1:c.6269C>T	ENSP00000386617.1:p.Ala2090Val
ENST00000413539.6:c.6308C>T	ENSP00000407046.2:p.Ala2103Val
ENST00000429174.6:c.6278C>T	ENSP00000398305.2:p.Ala2093Val
ENST00000479049.6:n.3100C>T
NM_001130455.1:c.6218C>T	NP_001123927.1:p.Ala2073Val
NM_001130976.1:c.6173C>T	NP_001124448.1:p.Ala2058Val
NM_001130977.1:c.6236C>T	NP_001124449.1:p.Ala2079Val
NM_001130978.1:c.6278C>T	NP_001124450.1:p.Ala2093Val
NM_001130979.1:c.6308C>T	NP_001124451.1:p.Ala2103Val
NM_001130980.1:c.6266C>T	NP_001124452.1:p.Ala2089Val
NM_001130981.1:c.6329C>T	NP_001124453.1:p.Ala2110Val
NM_001130982.1:c.6311C>T	NP_001124454.1:p.Ala2104Val
NM_001130983.1:c.6281C>T	NP_001124455.1:p.Ala2094Val
NM_001130984.1:c.6239C>T	NP_001124456.1:p.Ala2080Val
NM_001130985.1:c.6269C>T	NP_001124457.1:p.Ala2090Val
NM_001130986.1:c.6176C>T	NP_001124458.1:p.Ala2059Val
NM_001130987.1:c.6332C>T	NP_001124459.1:p.Ala2111Val
NM_003494.3:c.6215C>T	NP_003485.1:p.Ala2072Val
XM_005264584.3:c.6374C>T	XP_005264641.1:p.Ala2125Val
XM_005264585.3:c.6371C>T	XP_005264642.1:p.Ala2124Val
XM_005264584.4:c.6374C>T	XP_005264641.1:p.Ala2125Val
XM_005264585.5:c.6371C>T	XP_005264642.1:p.Ala2124Val
NM_001130987.2:c.6332C>T MANE Select	NP_001124459.1:p.Ala2111Val
NM_001130455.2:c.6218C>T	NP_001123927.1:p.Ala2073Val
NM_001130976.2:c.6173C>T	NP_001124448.1:p.Ala2058Val
NM_001130977.2:c.6236C>T	NP_001124449.1:p.Ala2079Val
NM_001130978.2:c.6278C>T	NP_001124450.1:p.Ala2093Val
NM_001130979.2:c.6308C>T	NP_001124451.1:p.Ala2103Val
NM_001130980.2:c.6266C>T	NP_001124452.1:p.Ala2089Val
NM_001130981.2:c.6329C>T	NP_001124453.1:p.Ala2110Val
NM_001130982.2:c.6311C>T	NP_001124454.1:p.Ala2104Val
NM_001130983.2:c.6281C>T	NP_001124455.1:p.Ala2094Val
NM_001130984.2:c.6239C>T	NP_001124456.1:p.Ala2080Val
NM_001130985.2:c.6269C>T	NP_001124457.1:p.Ala2090Val
NM_001130986.2:c.6176C>T	NP_001124458.1:p.Ala2059Val
NM_003494.4:c.6215C>T MANE Plus Clinical	NP_003485.1:p.Ala2072Val